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    GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 [ Homo sapiens (human) ]

    Gene ID: 2560, updated on 27-Nov-2024

    Summary

    Official Symbol
    GABRB1provided by HGNC
    Official Full Name
    gamma-aminobutyric acid type A receptor subunit beta1provided by HGNC
    Primary source
    HGNC:HGNC:4081
    See related
    Ensembl:ENSG00000163288 MIM:137190; AllianceGenome:HGNC:4081
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DEE45; EIEE45
    Summary
    The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 8.6) and heart (RPKM 0.4) See more
    Orthologs
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    Genomic context

    See GABRB1 in Genome Data Viewer
    Location:
    4p12
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (46993647..47426447)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (46998964..47393806)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (47033584..47428464)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene cytochrome c oxidase subunit 7B2 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:46889421-46889608 Neighboring gene Sharpr-MPRA regulatory region 10756 Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha4 Neighboring gene Sharpr-MPRA regulatory region 8016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21529 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:47379937-47380444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15398 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:47416165-47416745 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:47432124-47432333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15399 Neighboring gene uncharacterized LOC107986277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21530 Neighboring gene COMM domain containing 8

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Developmental and epileptic encephalopathy, 45
    MedGen: C4310691 OMIM: 617153 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    enables GABA receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GABA-A receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GABA-A receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GABA-A receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables GABA-gated chloride ion channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GABA-gated chloride ion channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    contributes_to chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ligand-gated monoatomic ion channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cellular response to histamine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in central nervous system neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chloride transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in gamma-aminobutyric acid signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in monoatomic ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ovulation cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of postsynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of presynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to progesterone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of GABA-A receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of GABA-A receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of GABA-A receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
     
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear envelope IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic specialization membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynaptic active zone membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    gamma-aminobutyric acid receptor subunit beta-1
    Names
    GABAAR subunit beta-1
    gamma-aminobutyric acid (GABA) A receptor, beta 1
    gamma-aminobutyric acid type A receptor beta1 subunit

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_051831.2 RefSeqGene

      Range
      42922..437802
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000812.4NP_000803.2  gamma-aminobutyric acid receptor subunit beta-1 precursor

      See identical proteins and their annotated locations for NP_000803.2

      Status: REVIEWED

      Source sequence(s)
      AC097712, AC105394, AC107392
      Consensus CDS
      CCDS3474.1
      UniProtKB/Swiss-Prot
      B2R6U7, D6REL3, P18505, Q16166, Q8TBK3
      UniProtKB/TrEMBL
      B4DEL7, X5DNL6
      Related
      ENSP00000295454.3, ENST00000295454.8
      Conserved Domains (1) summary
      TIGR00860
      Location:9472
      LIC; Cation transporter family protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      46993647..47426447
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453977.2XP_024309745.1  gamma-aminobutyric acid receptor subunit beta-1 isoform X2

      UniProtKB/TrEMBL
      B4DEL7
      Conserved Domains (1) summary
      TIGR00860
      Location:6439
      LIC; Cation transporter family protein
    2. XM_024453976.2XP_024309744.1  gamma-aminobutyric acid receptor subunit beta-1 isoform X2

      UniProtKB/TrEMBL
      B4DEL7
      Conserved Domains (1) summary
      TIGR00860
      Location:6439
      LIC; Cation transporter family protein
    3. XM_017007986.3XP_016863475.1  gamma-aminobutyric acid receptor subunit beta-1 isoform X3

    4. XM_017007985.2XP_016863474.1  gamma-aminobutyric acid receptor subunit beta-1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      46998964..47393806
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349558.1XP_054205533.1  gamma-aminobutyric acid receptor subunit beta-1 isoform X1